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Pitt Hopkins Research Foundation

Pitt Hopkins is a rare and severe neuro-developmental disorder caused by a mutation of the TCF4 gene on the 18th chromosome. It is characterized by profound developmental delays, problems with motor coordination (ataxia) and balance, breathing abnormalities, seizures and severe intellectual disability. Most individuals with Pitt Hopkins do not develop functional speech. Pitt Hopkins affects all races and both genders equally.
Although the cause of PTHS is known, there are currently no treatments available for this disorder. PHRF is committed to funding research that will lead to treatments and eventually a cure.
Learn about PTHS and why we believe a cure is within reach... at www.pitthopkins.org